A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560065



Internal ID16347474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:106247203..106248612hg38UCSC Ensembl
Innerchr12:106640981..106642390hg19UCSC Ensembl
Innerchr12:105165111..105166520hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381410
hg191410
hg181410
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2846n54
Supporting Variantsnssv801856, nssv801855, nssv801860, nssv801859, nssv801858, nssv801857
Samples
Known GenesCKAP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560065
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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